聚焦PGT-A下一代测序中的文物:高马赛克主义报告的原因
Neeta Singh1, Ankita Sethi1, Ritu Gupta2
1Department of Obstetrics and Gynecology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
JBRA assisted reproduction
|July 17, 2025
概括
下一代测序 (NGS) 用于植入前遗传测试 (PGT-A) 显示的文物可能导致虚假的马赛克报道. 改进NGS协议对于准确的胚胎遗传测试至关重要.
科学领域:
- 生殖医学 生殖医学
- 遗传学 遗传学 是一个
- 生物信息学是一种生物信息学.
背景情况:
- 在胚胎活检中,使用下一代测序 (NGS) 检测副本数变异 (CNVs) 进行形前植入基因检测 (PGT-A).
- 在NGS数据中区分真正的胚胎马赛克与技术工件仍然是PGT-A.的一个重大挑战.
- 在PGT-A中报告的高嵌率可能受到NGS配置文件中识别的反复出现的工件的影响.
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